Folic Acid and MTHFR – Could You Have a Genetic Mutation?

Dr. Doni Wilson, author of The Stress Remedy, explains how health issues such as anxiety, migraines and high blood pressure could be caused by a genetic mutation.

I hear from so many patients who have fatigue, irritability, brain fog, anxiety, sleep issues, and/or aches and pains—and often there is no apparent cause. Doctors frequently say, “There’s nothing wrong” because standard blood results all fall within basically “normal” ranges. Even when a diagnosis like fibromyalgia, chronic fatigue, and/or autoimmunity is given, it is not often suggested that an undiagnosed and treatable genetic issue could be underlying the entire problem.

We usually think of genetic disorders as conditions that are obvious and require lifelong adaptations, but what about the more minor genetic differences that influence not just the way we look, but the health conditions to which we are predisposed?

Thanks to the Human Genome Project (which completed the first map of human genes in 2003) and advances in ways to identify individual genetic mutations, it is beginning to be possible to know what is happening in your body before health conditions develop. This means that we can do something to prevent these conditions before they happen.

It is absolutely certain that exposure to stress (both emotional and physical stress—including diet and toxins) affects the way our genes are expressed, so managing stress is imperative to our wellness. However, we can also now do relatively inexpensive tests to determine our need for nutrients that can fill in where our genes are leaving us susceptible.

What is MTHFR?

One example, and often the first mutation tested, is MTHFR. MTHFR stands for methylenetetrahydrofolate reductase—an enzyme that activates folic acid by adding a methyl group to it. That’s right, plain old folic acid—the same folic acid found in your multivitamin and in fortified foods.

Activated folate (named 5MTHF) goes on to give its methyl group to other nutrients and substances—a process called “methylation.” Read all about methylation in this article. Folate is required for the creation of every cell in your body, so if it is not activated properly, you can imagine what a significant issue it would be. 5MTHF, along with several other nutrients, is also used to create and process neurotransmitters (messengers in the nervous system like serotonin, epinephrine, norepinephrine, and dopamine); create immune cells and process hormones (such as estrogen); as well as to produce energy and detoxify chemicals.

Stress, in all its forms, inhibits this “methylation,” the transfer of methyl from 5MTHF to other substances. So when you are under stress, it is especially important to provide the nutrients necessary for these processes.

To clarify in more detail, the liver is a major processing system, involving countless enzyme pathways, including methylation, which turn one nutrient into another and toxins into non-toxins, preparing them all to be used and/or expelled by the body. When you drink alcohol, it is your livers job to process it using methylation, but if your nutrients are depleted or you are stressed, your liver will not be able to complete the process effectively, leading to symptoms associated with a hangover.

If in addition you have a genetic mutation of MTHFR, which lowers your ability to methylate–and it turns out that many of us do have at least one form of that mutation—then your body is going to have an even harder time detoxifying alcohol and other toxins.

In fact, the degree to which your body doesn’t activate folic acid to methylfolate influences your susceptibility to chemical sensitivities and allergic responses, but also blood clots, strokes, anxiety, depression, high blood pressure, certain cancers, and more. Even thyroid issues, headaches, and insomnia have been associated with having an MTHFR mutation.

And the simple treatment is to take folate in an activated form orally. So you see it would be absolutely worth knowing if you need it, because then you can address it immediately and hopefully reduce your risk of developing these conditions.

In fact, without knowing your genetics, and knowing that most of us are under stress and exposed to toxins, it is generally a good idea to take activated folate instead of folic acid, so check your B complex and multivitamin to make sure it says “folate” or “methylfolate” instead of “folic acid.” Folic acid is also often added to processed foods, so check the labels on packages and avoid them if they say “folic acid.”

The best source of folate in food, by the way, is UNCOOKED greens (spinach). But for those of you with ongoing health concerns, finding out if you need even more methylfolate could make a life-changing difference in your health.

I offer these tests for patients in my Connecticut office (New York has not approved the saliva testing). Alternatively, you could ask your medical doctor to test for an MTHFR mutation in your next set of bloodwork, but keep in mind that insurance does not always cover this test (it depends on your health issues).

Sometimes the best option, especially if you’d like to find out about all of your genetic mutations and related nutrient needs, is to order a saliva test kit yourself online for $99 from 23andme.com. They will provide your “raw data” which you can then process through other online programs that will list your genetic mutations.

Once you have your results, I’m happy to walk through them with you (in-person or by phone/Skype), explain what they mean and how to address them as well as your health issues. The best way to do that is to schedule a Comprehensive Health Breakthrough Session with me. Or if you prefer, we can meet first, then I can help you with the genetic testing and go from there. During your initial appointment we can also discuss whether it makes sense for you to choose my MTHFR and Genetic Profiling Solutions Package, which includes follow up consultations and tests that help us understand how your mutations may be influencing your health, as well as discounts on supplements.

How other genetic mutations might be affecting you

Before you start diving in to find out whether you have a MTHFR mutation, it is important to know that there are many variations of this mutation and numerous complexities to how this mutation affects other processes in the body. There are also a variety of ways that you may respond to taking 5MTHF.

There are actually two main possible MTHFR mutations, C677T and A1298C, and depending on whether you have either or both, on one or both strands of your DNA, will determine the extent to which the enzyme is affected. Then, to make it more complex, there are cofactor nutrients involved in methylation and methylated folate affects other nutrients in the body as well, including B12 and methionine.

So if your body is not activating folic acid, it could be disrupting other nutrients and processes, including the production of neurotransmitters, detoxification of estrogen, and production of usable vitamin B12. This can result in anxiousness, fatigue, brain fog, as well as increased risk of cancers, heart disease, Alzheimer’s disease, and diabetes. But it also means we need to proceed carefully when we start giving methylfolate, because all of these processes will be affected.

Furthermore, there are other possible mutations that can affect and be affected by MTHFR. So it really helps to have a practitioner guide you through the information.

What can I do if I have an MTHFR mutation?

The first thing to know is that your body requires a form of activated folate called 5MTHF or methylfolate (not folic acid). You can get methylfolate from uncooked leafy greens and from supplements. Supplement companies have started making products containing 5MTHF, so you can access them without a prescription (although prescription forms are also available). I sell these supplements in my office at a reasonable price. To find out more about such products, check out these examples:
– MultiNutrients V– Multivitamin Forte– 5MTHF 1 mg and 5 mg– MethylGuard

I strongly encourage you to go slowly and notice how your body responds. The dosing for 5MTHF is highly individualized* and starts with the lowest possible dose (200 mcg to 1 mg) in order to allow your body to adjust to a new amount of this nutrient. It is important to monitor for negative responses (such as anxiety and feeling jittery or nauseous) which indicate that there may be another mutation affecting methylation. Too much methylfolate is NOT a good thing, so decrease your dose if you don’t feel well.

I can’t emphasize enough how important it is to work with a practitioner with training in how to support MTHFR mutations. You can find out about having a consultation with me in-person or by phone/Skype under Make an Appointment above.

Your practitioner may recommend other tests to help us understand how your MTHFR mutation is affecting your health, such as testing for food sensitivities, salivary cortisol levels, neurotransmitter levels, organic acids, and methylation metabolites. That’s why I created the MTHFR and Genetic Profiling Solutions Package. It includes all of these tests, as well as an initial appointment and follow up appointments – so you’ll have everything you need to get your MTHFR mutation(s) managed with support.

Closing thoughts

In the past, genetics used to feel like a ‘done deal.’ We were stuck with the genes we received at birth and couldn’t really do much about them. But now, through breakthroughs in genetic science, we are learning more and more about our specific needs based upon our genetic profile. This means we can influence our health in the future based on the nutritional choices we make now.

By combining this information with what we know about restoring an optimal response to stress, you can be preventing cancer, Alzheimer’s disease, autoimmune conditions, and more. I created the ‘Stress Remedy Master Plan’ that you can read about in my book The Stress Remedy to guide you through the process.

*Please keep in mind that any and all supplements—nutrients, herbs, enzymes, or other—should be used with caution. My recommendation is that you seek the care of a naturopathic doctor (with a doctorate degree from a federally-accredited program) and that you have a primary care physician or practitioner whom you can contact to help you with individual dosing and protocols. If you ever experience negative symptoms after taking a product, stop taking it immediately and contact your doctor right away.

About Dr. Doni

DR. DONIELLE (DONI) WILSON N.D., is a naturopathic doctor, certified professional midwife, and certified nutrition specialist with more than 20 years’ professional practice. A graduate of Bastyr University, she is the author of widely-acclaimed book The Stress Remedy: Master Your Body’s Synergy & Optimize Your Health. In that book, she redefines "stress" to include toxins, food sensitivities, and imbalanced blood sugar levels, and offers expert guidance on how to reclaim optimal health and fertility. She is a sought-after speaker in the media, and at both public and professional events. Dr. Doni is also the creator of The Stress Remedy 7-Day and 14-Day programs, which support diet change, sleep, exercise and stress reduction. She hosts the podcast Empowering Wellness Naturally and writes a weekly blog at DoctorDoni.com.

Comments

Good question, it can be very helpful to use other nutrients along with 5MTHF (folate) such as in a B complex or multivitamin – such as this one http://www.mcssl.com/store/drdoni/multi-vitamin-forte-60-veggie-capsules-klaire-labs. Look for methyl B12 and the P5P form of B6. I need to write more about this soon it seems. Also, keep in mind that it is often best to start slowly with these nutrients to allow your body a chance to adjust to them.

My son had a psychotic episode during his last year at college and was hospitalized for 5 days, His neurologist found that he had one mutation of the MTHFR gene (CD677). During his hospitalization he was put on numerous medicines for bipolar. He had horrible reactions to these medication and weaned off after a year and doctor supervisor. We always questioned te quick diagnosis of bipolar because he never exhilited a symptom until this breakdown. At the time of the episode he was under extreme stress with school, involvement with Relay for Life and creating a charity for a fallenpolice officer. In addition, I was diagnosed with Acute Lymphoblastic Leukemua in 1979 ( age 16) and relapsed in 1982. I was blessed to be a part of experimental protocol at NIH. I am very concerned for my son and am interested in the Folic Acid remedy. He has had side effects from most medications even at low doses. I wish we were in your area to plan a doctors visit. We are in the Washington DC metro area (Northern Virginia) and would love a recommendation of a doctor. Thank you for the valuable information.

I think it is a great idea for you to work with a practitioner who can help you and your son with addressing the MTFHR mutation, and potentially other methylation issues that can come along with it. Find one of my colleagues in your area by using the Find an ND tool at Naturopathic.org.

Please have your son checked for any issues with CYP P450 Cytochromes. They are liver enzymes that help with Phase 1 pathway detoxification. If your son is having issues with processing pharma drugs, there is a good chance he has issues with one or more of these cytochromes. There are about 8 that are known/studied. I have 3 mutations and no active alleles for CYP 2C9; while that is not the enzyme usually looked at for cases of the body rejecting pharma drugs, my body still has issues using pharma drugs; when I was on them, the doses had to increasingly go higher and higher until I eventually would get an all-over body rash from my body’s inability to detoxify the drug. Individuals with Issues with CYP3 usually have many problems with taking pharma drugs; each P450 cytochrome detoxifies different drugs. This is a good article that explains more: http://www.anaesthetist.com/physiol/basics/metabol/cyp/Findex.htm#cyp.htm The 23and Me test also tests for these cytochromes. There is a good chance that both issues with MTHFR and P450 Cytochromes go hand in hand; I am currently investigating this.

I have OCD, anxiety/depression, and autoimmune issues. I recently found a doctor specializing in brain biochemistry and he suspects I’m severely undermethylated. I am waiting for lab results on histamine, zinc, copper, ceruloplasmin, TSH, and homocystene, as well as heavy metals and pyrrole. He did not test for MTHFR because he said what’s important is knowing how much methyl is present, which the above tests will show. Furthermore, he says folate is a serotonin reuptake promoter, so if I’m undermethylated and suffer with depression, folate will strip more methyl than it provides, making me feel worse. I will need to avoid folate-rich foods (my favorite), eat more protein (I’m vegan), and start extraordinarily high doses of B6 and other vitamins/minerals, excluding methylfolate. I’m so confused because everything I’m reading online states it’s important to know which variation of the MTHFR mutation I have, as well as methylfolate being the primary treatment. Please advise.

It sounds like you are working with a practitioner who is very thorough. Methylation is such an important and complex part of our metabolism, it can be tricky because addressing it can be beneficial to one part of the body while aggravating symptoms in another area. It could still be helpful for you to know whether you have a mutation, even if just so you have a better understanding. Your doctor may be prioritizing costs for you, and is correct that you might not be able to jump right in with methylfolate. It is helpful to get all the information first – the blood work results, etc – then decide what your next steps will be. You might consider doing the 23andme panel so that you’ll have more genetic information to work with.

I’ve had M.E then later F.M for 27 years with unbearable severe pain now more from my neck and musculoskeletal pain as well and my knee joints easily get splits in the cartledge or sublaxate and my jaw joints are very loose some weeks and extremely tight the next. Hangover-like headaches that are permanent and tinnitus. Should I test for MTHFR Gene mutation? I’m in severe pain with all the ME/FM SYMPTOMS but it’s becoming too hard to live with.

Hello Paul,
Yes, I do think that it will help you to understand your body and your symptoms by finding out if you have an MTHFR mutation. I also find in cases like yours that doing a full genetic panel is helpful, because then you will not only have a better understanding of the cause, but also what to do to help your body feel better.

My 20 year old daughter is suspecting she might have MTHFR. She is petrified of taking blood tests. I cannot afford costly vitamins, saliva tests and such, but of course her health is crucial. My question to you is, if she does decide to finally want to do blood work, what is more effective in testing, the saliva test or blood test? Someone also told her that other than going to only organic foods, she should also only use organic makeups, blush, and mascara. What is your opinion on that?

Thank you and may you be able to keep helping individuals live a more healthy and serene life.

You’re welcome! Saliva and blood are equally effective for testing for MTHFR – it’s just that the blood test is more expensive and only tests for MTHFR, whereas the saliva test is less expensive and tests for many other mutations as well. In terms of choosing organic, I would say the more you can choose organic, the better – both food and on your skin.

Hello I had the testing done this Feb when I had a mc and my Dr said for me to take folic acid and baby aspirin daily , but I have read that it’s not folic acid I should take but folate acid. Because of the mthfr I have had 8 mc in the last 3 years and we really want to have a baby. I’d love to have ur opinion on what u would recommend to do. I was taking 4 800mcg folic acid and 1 baby aspirin daily but after I did lots of research I seen that it’s folate that I’m needing so I order some online and started taking it in place of the folic acid.

Yes, you are understanding correctly – it is methyl-folate (5MTHF) to take when you have an MTHFR mutation. Also, I want to just say how sorry I am for you to go through that many miscarriages. I’d be happy to help you. We can meet by phone/Skype and I can put together a thorough plan to help you with getting pregnant – that is something I help women in my practice with all the time.

I am not a dr but I myself have had five miscarriages ending at what sounds like the same time you miscarried. I too was taking folic acid and read up that I shouldn’t so I quit taking it and am just eating foods with folate. My dr made it out to be that MTHFR was no big deal when in fact it truly is a huge deal. They didn’t even suggest any other treatment but taking folic acid. How crazy is that? My old dr in Dallas concluded that I need to take Lovenox, baby aspirin and progesterone. So far I am almost 11 weeks so it is working this far. Please don’t give up hope and faith because I too was like come on man what is going on and even after having bad luck with dr’s there is at least one that will help you and Dr. Doni sounds like she may be your saving grace. I can’t see my old dr because he is four hours from me but we communicate and Dr. Soni can do the same with you. I am so glad that I did my own research and quit the folic acid. Why my current doctor would shrug off MTHFR off like no biggie and put me on folic acid in the first place totally mind boggles me but it is good to know there are fabulous dr’s out there that care. We just have to pray and hope. I do hope you contact Dr. Doni. Best wishes to you both and baby dust galore.

Hello Kristen (and Lorenda),
I’m so sorry to hear about the challenges you’ve faced. I would be happy to help, but would need to meet with you for a consultation because your case is complex and you deserve detailed support. Have you already contacted my office to arrange a time for us to meet? If not, you can call 855.316.2114 or email office@doctordoni.com. I also have an online scheduling system so that you can schedule a time for us to talk in depth at DoctorDoni.com/schedule.
—Dr. Doni

Dear Dr. Doni
My husband and I have been trying to have a baby for the past 5 years, but after 3 miscarriages we feel like we are no way closer to our dream. With my last pregnancy in June, I found out that I have the MTHFR mutation. I wish I had known sooner, but I lost the baby within 1 week of this diagnosis. Along with this mutation I had a blood clot behind the placenta. The same thing happened with my first pregnancy. It seems that I tend to lose them around the time of their brain and spinal cord development. Maybe this is because I do not have the folic acid in my system to provide a fetus. Could this be my problem or do you think my thinking is way off? It appears that my doctors do not know how to advise me going forward. They have prescribed me Metanx which I have been taking regularly, but my husband is now skeptical and scared of another loss. Please help? I don’t know if I should just give up on the idea now. Thank you!

I’m so sorry to hear of your losses. I see many women in my practice everyday to help them with MTHFR and successful pregnancy. I’d be happy to help you as well. Please schedule a time for us to meet (in person or by phone) so we can get started.

Hello… I am 42 and have suffered from anxiety for about 18mos. I have various SSRIs but none of them have seemed to work. In the last few months I started counseling and recently heard of a genetic test that may point to the reason why nothing has worked. My results came back and the three genes I discussed with the doctor were:
– CACNA1C gene resulted in G/A
– COMT gene resulted in Met/Met
– MTHFR gene resulted in C/T
It was decided I should try a Omega 3 and L-Methylfolate to see if this helps. The L-Methylfolate is 1000mcb and I have felt more anxious and panic than normal. Is this too much to start off with? It is in capsule form so I can’t take less and this seems to be the lowest dose offered. I was also told Niacin or a B-complex may be needed but I didn’t want to start with too much at once.

Sometimes people experience an increase in symptoms when they start methylfolate. It can make a huge difference to work with a practitioner who can help you step by step. I also find that it is important to run a test for and address neurotransmitters and adrenal function, to prepare your body for a positive change. I’m happy to help – Please schedule a time for us to meet (in person or by phone) so we can get started.

Hi! I have a few questions 🙂 I need to get tested for the MTHFR gene defect. I have had anxiety sometimes severe for 15 years. I am 40 year old female. I take meds to control and they do help but I KNOW something has to be behind it… Does MTHFR affect toxicity? I react to most drugs/supplements, doctors saying I am extremely sens/slow metabolizer of drugs. I only suspect MTHFR (besides mood problems) cuz I noticed my hair quit falling out after stopping a sublingual B6, B12, Folic acid supplement and they were non-methylated forms (huge blessing! My hair had been thinning badly for several months!). Also, so many sites talk about people having so many people having bad reactions once taking methylated forms – sometimes worse than previous symptoms they were dealing with! Am I only reading testimonials of those who reacted badly? Or have you actually had success with conquering the MTHFR gene and patients feel better – life changing perhaps?? Thank you so much!

Hi April,
It’s hard to make a determination without knowing more, but I’m thinking that your sensitivity to medications is likely associated with a different gene – perhaps a CYP gene that has to do with liver detoxification – and you would be able to see that on a full genetic panel. While it is true that some people have to work through dosages and addressing other mutations to see the benefits of addressing MTHFR… others see benefits right away. It’s always best to work with a practitioner who can help you to go slowly, and adapt dosages to your body, as well as to test for and address any other mutations that may be affected by methylated nutrients. I do encourage you to continue searching for other solutions to support your body and to help you feel your best.

I have been withdrawing from a benzo since last January and and went to a ND who said that I have MTHFR from both of my parents. My question is should I wait until I feel better from the protracted withdrawal or try and tackle the MTHFR? My problem is that most people withdrawing from these types of medications have trouble with low B Vitamins. Please tell me what you think?

It is important, in your situation, to work with an ND who can help you to address the MTHFR/B vitamin needs. You may find that it actually helps the process you are in to support your body’s nutrient needs. At the same time, sometimes people have reactions to starting methylated nutrients, and you don’t want that to throw you off – that’s why it is better to work with a practitioner who can help you through it.

Hi Suzan, it is best to work with a practitioner to help you with the dosing, as it can very from person to person. In general, it is best to start with a very low dose – even 200 mcg – and gradually increase if needed. Both folate and methylfolate are correct, it’s just that sometimes products will list “folate” with “folic acid” in parenthesis – that is what you don’t want. You want it to say “Folate as 5-tetrahydromethylfolate or methylfolate or L-methylfolate.”

Hi Dr Doni,
My son has had a constant headache for almost 6 yrs now. He is 17 now. This headache came on with an ear infection and the headache NEVER went away. We just saw an ND for the first time and we are doing the mthfr swab test. Have you had any past experiences with chronic headaches & this being the problem?

That is great that you are meeting with an ND, and that you are getting the MTHFR test done. Make sure that you also do a full genetic panel, because it may have to do with another mutation. Yes, headaches can be related to MTHFR. They can also be related to food sensitivities, blood sugar imbalances, digestive issues/leaky gut, and/or nutrient deficiencies (and more). I’m sure your ND will look into all of these possibilities.

Hello…about a year ago, I was consulting with a doctor (for CFS) who diagnosed undermethylation based on blood tests (copper etc) but did not do genetic tests. My serum folate was very high so she recommended to go easy on green foods like spinach. She admitted she was ‘new’ to functional medicine so I have moved on to a doctor who is very experienced in this field. He is testing me for MTHFR. I easily understand that Folic Acid can not be converted and used if you have this faulty gene (supps and fortified foods) but I don’t understand the natural food folate component – if you have the faulty gene/s, are you not able to turn folate from greens into methylfolate? Some sites recommended eating MORE greens and some, like my previous doctor said to avoid?

Great that you are getting the test done now, so you can know for sure what is needed for your body. You’ll likely also want to do a full genetic panel, so you have all the information, which can be very important prior to introducing methylfolate. In terms of spinach – it contains naturally active folate, so you do not need to avoid it. You just need to avoid folic acid (such as in supplements and fortified foods). There are sometimes other concerns with eating too much spinach (oxalates), but in terms of MTHFR, spinach could actually help because it contains active folate.

My Doctor has informed me that I do have an MTHFR issue based on blood tests and recommended that I take Methyl Guard Plus. I am under his care for Lyme Disease with ozone Therapy. I also have thyroid, adrenal and GI parasites issue and we are handling all of this with many treatments.

However my problem is that I am reacting to any processed and concentrated nutrients and supplements including Methyl Guard Plus. I get a severe stimulant like reaction, like I am ‘wired’ and at the same time very anxious, exhausted, body aches just like Fibromyalgia and unable to sleep well and more exhausted and wired the next day. Even if I take very low dose of any supplements, the reaction shows up after a few days of daily dose, showing that the cumulative effect of daily dose is still in the body and when the threshold level is reached the reactions begin.

This happens even with Methyl Guard Plus and so I am not able to get any therapeutic effect from the mehylated folate in it.

I am wondering if I should also consult with you as a complement to my existing doctor’s services.

Please let me know what you think. I do not react to foods, only the processed, concentrated nutrients and extracts.

Hello Kailash,
It sounds like it would be helpful in your case to run a full genetic panel (23andme then report), because other SNPs (genetic mutations) may be affected by 5TMHF (methylation) and be causing you to have those effects. Be sure to check with your practitioner, and if they are not familiar with helping you with other SNPs, then yes, I am happy to help you.

Hi Angela, are you saying that you are more tired since taking 5MTHF? It is possible to feel worse when adding in 5MTHF, especially if the dose is too high for your body, and if you have not yet addressed other potential genetic mutations. Important to mention that to your practitioner, and to work with them (or another practitioner) to adjust your doses and identify the cause. Happy to help if you need it.

Good evening Dr. Doni, 12 years ago I tested positive for MTHFR. I had two miscarriages due to MTHFR. Third pregnancy had to do Hepburn shots in my stomach twice a day. Fast forward to today I have insomnia, chronic fatigue. Absolutely no energy. Could this be from the MTHFR mutation? Should I see a doctor about this? If so, what kind of doctor.?Any help would be greatly appricated.
Thank you,
Michelle

Hi Michelle,
Yes, especially if you are not currently taking 5MTHF, the way you are feeling could be related to the MTHFR mutation, and/or other mutations. You’ll want to choose a Naturopathic Doctor preferably, and one who is familiar with addressing genetic mutations. I’m happy to meet with you by phone/Skype if you’d like.

I was born with a very mild form of Crouzon Syndrome. I had one surgery at nine months old while most babies around me had multiple skull surgeries.

While I have a minor learning disability, CS has not interfered too greatly with my ability to live an independent life. Last year I earned a masters degree in journalism.

I am 32 years old and engaged. My fiancée and I plan on someday having children. I have never had any genetic counseling but am considering it. I eat healthy, drink fresh fruit and/or vegetable juices daily and supplement with b-complex, Quercetin/Bromelain and Vitamin C. My biggest concern is having a child with CS. I no longer drink alcohol in part because I developed Hepatitis C when I was an infant following CS. Last year I had a blood test which indicated I have good overall health.

Hi Greg,
Meeting with a genetic counselor to help evaluate risk associated with passing CS on to your children will be helpful for you and your fiancée. In terms of healthy sperm, there is great research on the use of some simple nutrients (such as B vitamins, vitamin C, and zinc) to help. Best is to meet with a naturopathic doctor who can evaluate your whole health and support you individually.

Hi,
I was diagnosed with MTHFR after multiple miscarriages. I since have carried 2 babies with eating a paleo diet, taking methyfolate and baby Aspirin. I suffer from anxiety and am in some sort of pain all the time. Pain ranges from back to neck to wrist. Seems like it is something different everyday. I am really interested in detox and supplementing appropriately. The information on the Internet is so overwhelming it is hard to know where to start. There are no naturopathic doctors in the town I live in. Would you suggest a place to start? Where to buy supplements etc?

Hi Megan, I’m happy to hear that methylfolate helped you. I know what you mean – it can be overwhelming to sort it all out on your own. It does sound like it would be very beneficial for you to work with an ND who can help you determine foods that may be playing a role, as well as adrenal health and nutrient levels. I’m happy to meet with you by phone/Skype – we can get a lot done even if not in person!

Great question! My latest blog post is all about testing for genetic mutations. You can find it here: http://bit.ly/genetic-testing. In terms of MTHFR specifically, you can either get a blood test for just MTHFR mutations, or you can do one of the saliva panel I mention in the blog post. If you prefer, you can choose my Genetic Profiling Solutions Package (mentioned in the link above) if you would like me to help you walk through each step in the process.

Thank you for the helpful and informative article. I recently found out that I have an MTHFR mutation from one of my parents. What I don’t understand is this: If I only process (methylate) 50% as much folate as someone without the mutation, why can’t I just double my folate intake by eating more vegetables, beans, etc.? Why do I need to take methylfolate? Thank you

Hello Katie,
Yes, you can get folate from your food!! You get it exactly! Many people don’t need to take additional supplementation just based on the MTHFR mutation… others do find they need more than they can get from food.

I’ve been suffering from anxiety for a long time. I’m 40 now and I can remember being sick everyday going to school when I was in the first grade. About 7 years ago it became worse. It resulted to many trips to the ER for rapid heart beat, brain fog, vertigo, blurred vision and many other symptoms too many to name. I have been to countless Dr and Specialist including cardiology and a neurosurgeon. I have also been to a psychiatrist and a psychologist. A lot of medicine has been prescribed. SSRI’S my body cant handle. 2 years ago I found a NP MD that did a few tests but he didn’t take insurance and the appointments and test became way too costly. He did mention from one of my test I had gene malfunction that has been passed down from one of my parents. He said that this malfunction put me at greater risk for certain things and also this malfunction also affected the way I was able to handle things. Ive lost not only jobs because of this but also my career as a professional. With 2 small children and a wife to support I’m desperate for some answers or at the least some direction where to turn next.

It sounds like understanding your genetics may help you. I’m writing some new posts on the subject, including more tips for how to get started and supplements to consider. It can be a complicated process, so you may find that you’d like to have a practitioner supporting you with the process, but I do think and hope that it would help you.

Hi Dr. Doni,
First I want to say thank you so much for offering this helpful information. I am seeking answers as I apparently cannot get many from my hematologist. I recently suffered a DVT in my popliteal vein that moved to my lung and caused a PE. I was hospitalized for over a week, until my INR got to a therapeutic range. I was sent home with a prescription of warfarin, and Lasix with orders to stop all other medications I was taking (Gabapentin and Tramadol). I was referred to a hematologist who ran a series of tests trying to find the cause for the clots, since I had no obvious cause except obesity. The blood doctor told me that I had two tests come back positive. One was positive for MTHFR gene mutation. The other was positive for hemochromatosis. He said both increase risk of clots. He also said that I am anemic (low MCV, MCH, and MCHC on CBC) but have genetic tendency to store iron in my liver (via the hemochromatosis). He also said that my homocysteine levels were high, so he prescribed me 5 mg of folic acid to try to bring it down. He did not say what kind of MTHFR mutation that I have, but I am leary of taking regular folic acid considering what I have read about it versus methylfolate especially since it is probable that I have the form that may cause it to build up in my body. I called the Dr.’s office and asked to have copies of all of my medical test results sent to me, but they sent all the blood work, and only copies of the negative test results. I received neither of the results on the ones he said I tested positive on. His office told me to make sure I take the folic acid prescription, lose as much weight as possible and to come back in 2 months for more blood tests to see if the folic acid is working. Do you have any recommendations considering I am on warfarin, Lasix, and the test results? Should I take the methylated form of folate? If so, at what dosage would you recommend? I am also trying to get additional folate from veggies (my INR is going haywire! ) I have really been trying the past few years to eat better and get more exercise. I had cut out processed foods, bread and sugar. I am currently taking a multivitamin geared toward 50+ yr old folks since it has no additional iron, low levels of vitamin K, and has some low levels of folate (folic acid) Thanks so much for any advice.

You’re welcome – I’m glad the article was helpful for you. I agree – I’m hesitant for you to take folic acid. I’d also want for you to have a practitioner help you with taking methylfolate so as to get the most benefit and not overdo it. Yes, be very careful with leaky greens, which contain folate and well as vitamin K. Just go slowly. You might consider setting up a one-time consult with me, so I can help get you started. Or you could do an initial consultation by phone and have me on your team going forward.

I am a PT specializing in chronic pain treatment including headaches, TMJ, pelvic floor pain, fibromyalgia, etc. One of my pts, very thin 50 yo woman, .has headaches for yrs. Recently her headaches got worse and she also developed dizziness. Pt would love to gain some weight, but unsuccessfully. She reports being a very peaky and poor eater ever since early childhood and so are her 2 daughters now. I suggested her to be tested for MTHFR, however, her neurologist disagreed.
This is what her neurologist’s wrote to me: “The best surrogate test for that is Homocysteine level or, even better, B12. Regardless, this is a very rare condition which usually becomes most relevant in stroke in the young etiology. As her MCV is completely normal, I would rather not explore this very rare condition, as she has many other issues including her anorexia, hyponatremia, etc.” My question is: can my pt’s conditions be a sign of MTHFR mutation? Is there any strong scientific evidence/literature that I could present to the neurologist? Thank you in advance for all your help.

Testing for MTHFR mutations is often not covered by insurance, so your patient may want to pay out of pocket for testing and work with a practitioner who can help her with natural approaches that integrate well with your treatment. Many practitioners are not well aware of the research and help that can come from addressing MTHFR and other mutations.

Hi-
I just found out I am homozygous for the c677t variant. I’ve had extreme fatigue, random and migrating neurological problems (hand weakness, left foot weakness, tingling, shakiness, etc), muscle fatigue, dizziness,, Brain fog, etc. I’m still nursing my 14 Old. My b12 and folate levels were normal, but my Dr wants them a bit higher and has advised me to start taking methyl b12, then methyl folate, d3, probiotics, fish oil, and iron for low ferritin. I have 2 questions..
1) will toxins be passed through my breast milk if I begin all these supplements?
2) do these symptoms mean the gene is being expressed or just that I might not be methylating correctly? How do I keep the gene from not being expressed?
Thank u for your time!

The supplements you listed should not cause toxins to occur in your breast milk, however it is always important to work closely with the doctor who knows your case. I’m thinking that starting those supplements one by one is important (not all at once) and leave methylfolate for last. You may need other nutrients (such as in a multivitamin) – do check with your practitioner. We are not able to tell for sure whether the mutation is being expressed, although based on your symptoms, it does sound like the mutation may be playing a role. Best prevention is to reduce stress, eat healthy, and correct nutrient deficiencies.

I have many of the symptoms of the folks posting on this blog and I am very interested in getting tested and seeing a good naturopathic doctor but am located in the Los Angeles area. Do you have a good recommendation for CA?
Thank you!
Kelly

I’m sure I have colleagues in LA who specialize in this area; check naturopathic.org for NDs in LA and then you may need to contact them to find out their experience. Just so you know, I also do consultations by phone/Skype and can help you from a distance.

Hi Dr. Doni, I was diagnosed with anxiety in 2011 which is triggered by interrupted sleep, extreme cold weather, not eating on time, and emotional stress. I have this very distinct symptom during my attack — intractable vomiting. I usually end up in the ER for risk of dehydration and I could not eat take anything down for couple of days. I’ve always been skinny and still losing weight especially during attacks that lasts for days. I would only get relief after a shot of benzo which calms my tummy and stop the hyperventilation and chest pain. I never had an attack during my pregnancy even I had to stop my SSRI for 9 months. I was taking folic acid supplement at that time. I’ve undergone several tests except for this MTHFR. Do you think I need to get tested? Thank you.

Yes, I think it would be worth it to find out if you have an MTHFR mutation. I’m thinking of a few other possible underlying causes in your case as well, including food sensitivities and gut-brain axis inflammation. May want to look into those as well.

Hi dr.doni, i’ll be seeing my primary care provider next week and i will request for MTHFR test. Im unsure if my doctor is familiar with this test. Is it just a blood test? Also, i started taking Heraclene (Dibencozide) and it helps improve my appetite and lessened my anxiety attacks. I’ve read that dibencozide is a form of cobalamin. This brand is from the Philippines. I will check on vitamin shops here in America if they have brands for dibencozide. What do you think of this supplement? Thank you.

Hi Dr Doni,
First of all I would like to thank for your informative alticle. I am living in Afghanistan, and I have anxiety from the beginning of my teenage and I am suffering from painic attacks and agoraphobia since that time, it made my life hell and abnormal, but it was not diagnosed and I was managing it somehow,but now I can’t manage it any more because I have two kids and they need me all the time and I can’t give them the care and attention they need because of my panic attacks. We don’t have any psychologists or psychiatrists and no labs. So I need your help.

I’m glad you found it informative. I would love to be able to help, although I’m not sure what is possible in terms of testing or supplements. If you think it would be helpful to meet by Skype, please schedule a consultation.

I was diagnosed with MS 12 years ago and in the past 5 years I have been having a lot of problems with pain, since then I was diagnosed with fibromyalgia and hochimotos. I have been to every type of doctor imaginable and this mutation has never been mentioned.
I just found a chiropractor who started me on MTHFR & BHMT assist for the numbness I am having which she thinks could be carpal tunnel. So far I am feeling ok and no side effects except a little heartburn. Should I still be tested for this mutation or just continue with her treatment plan?

Wow, I am very impressed by your blog and the time you take to respond. I am a 48 year old female suffering from aches and pains, Hyperarousal anxiety induced insomnia and just feeling like I’m going through the motions. My situation/question is: I had an infected tooth from an incomplete root canal where a piece of cotton was left behind. For 19 years I was sick all the time and on antibiotics every 6-10 weeks for all those years… I was working with a Natropath doctor and took adrenal supplements for years. I had the tooth/root removed 10 years ago. Since then I have had some autoimmune things like hyperthyroidism and type II diabetes which have both been resolved. My biggest complaint is just never feeling rested or feeling joy. I currently have swelling in the bursea tissue of my knee and it’s not bursitis, the swelling showed up the day after I had 4 Mercury fillings removed. But no one thinks that’s significant. The doctors just ruled out lupus. Here’s my question: with all that infection in my body for so long should I be detoxing my body? Would the 23andme testing maybe reveal something?

Aw, I’m glad to receive your feedback! I’m glad to hear that you’ve worked with a naturopathic doctor. I definitely think you could be feeling better if you had follow up testing completed, for your adrenal function and more, as well as the genetic testing so that you know which SNPs need attention. I think I would suggest that you do the genetic panel first. Then based on the results, create an individualized and supported plan to detoxify and support your body to heal.

hi dr doni,
i am 34 yrs old …i had history of repeated faliure of icsi… i was diagnoned as hetero c677t mutation, hetero betafibrinogen and hetero factor xiii mutation… i was on folic acid high dose as folate is not avalible where i live …but i searched i found that i shall use the active form …i manage to ger solgard 800 mcg folate …and methylcobalamine 1000 mcg
i need to know the recommended dose of metafoline and vitamin B should i have …knowing that iam pregnant …i am having also aspirin and innohep once daily before i had my ET…

Dr. Doni, I’ve suffered from but ably functioned with OCD and anxiety for 43 years. About 5 years ago, I started Sertraline an SSRI and had great results. I did gain weight, but that is the only side effect. Last year a natural doctor asked me to get the MTHFR test and I was homogeneous c677t. I stopped my multi altogether. I tried some active folate from Dr. Ben Lynch’s site, but felt increased anxiety. Should I avoid ALL foods like cereals etc with enriched folic acid,which is HARD to do? Should I take a B-Complex? Do you think it is possible to have similar effects by going natural and getting off the SSRI, under a doctor’s supervision of course? Lastly, I have 4 kids 5 and under, do I need to start attacking MTHFR for them yet? THX

Yes, best to avoid foods enriched with folic acid, especially cereals. There is much possible in terms of helping you feel better. I would want to meet with you and discuss the details, and help you to start with nutrients one by one… but need to go carefully so as to avoid having you feel worse again. Yes, good to start thinking of MTHFR for your kids – they will have at least one mutation – from you. And they may need support already to help with development, etc.

Hi,
I am a 21 year old female, and I am heterozygous for C677T. My folic acid levels were high at >20 ng/mL. My doctor had me tested because I’ve suffered from diarrhea my whole life. That’s really my only symptom. Chronic diarrhea, and I guess just being tired. I have gained about 6 pounds, but I am still at a healthy weight. I eat gluten and dairy free, with very little refined sugar. My HS-CRP was also elevated at 3.3mg/L. Could this mutation be causing the stomach issues or do you think that is unrelated?

That’s a great question. It could be related… and taking folate may help with the diarrhea… it is known to help heal the intestinal cells. I’m sure we could do some more investigating and see if we can find anything else that may be triggering the diarrhea, and to help it resolve using nutrients and herbs. Let me know if you’d like to meet so I can review your case for completely. If you’d like to schedule for me to help you, check out doctordoni.com/appointment.

Hello Dr Doni!
I have a feeling that i have one or both of the mutations…

I have been suffering from IBS for over 15 yrs now… and have hives and days where i can barely move because i have no energy… to move… i have told the doctors that its like my cells arent getting the energy they need. And these hives are like toxins inside me that have no way to get out… so they try to go thru my skin… I have a new doctor that actually is listening to me… maybe because im much more outspoken than i was when i was a teenager that was completely embarrassed and didnt know why i was so sick every day.

Thank you for your website it has been very informing… and would appreciate any advice about going forward on my testing, I like the idea of getting the 23 and me site but should i have the tests done by my own dr?

Hello, I’m sorry to hear that you have suffered so much for so long. I help many patients with histories like yours. Maybe what you could do is talk with your new doctor about genetic testing and find out his/her experience with it. If you find that you need additional support, feel free to reach out and I’ll be happy to help.

Dear Dr. Doni,
My son was recently tested and was found to have tested positive for MTHFR. He has always suffered from anxiety, depression . He is now 26 and a heroin addict. His neurologist has suggested he start the medical food supplement for this and it is costly, so he just said to “forget about it” Do you think this is something I should try to sway him on.
If this can help with the depression and anxiety- just maybe this could help him with trying to get clean. Also, if my son tested positive, should my other children be tested. My daughter has been diagnosed with fibromyalgia, chronic fatigue, anxiety and depression.

Your son’s case sounds complex. I really think that he will find the most benefit by working with a practitioner who can provide a lot of detailed follow up, not just regarding MTHFR, but also neurotransmitters in general. He could try gradually integrating support for MTHFR, but if he experiences aggravations or not enough improvement, that is a sign that working with a practitioner will be helpful.

Yes, your other children – and you – should be tested so you can address methylation for your health.

Hello I am in need of HELP I have the C677T and the MTHFR I also and Thyroid Disease Hypothroidism also lichen planus, Intersitial Cystitis, Gulten Intolerance, Endometriosis, and I had a hysterectomy 3 years ago. I am 30 years old and feel awful everyday – no energy at all. I do take Folbee everyday to help with the Mutations. I take 50,000 of Vit D3 a week no help. I really don’t know what else to do. I was never told not to eat certain foods with my Mutations.

I’m sorry for you to be feeling awful everyday when there is so much help available for the conditions you mentioned. It sounds like you are on the right track, and just need to keep fine-tuning with the help of a practitioner who is experienced with healing leaky gut, optimizing adrenal function, and restoring nutrient levels. Check out the MTHFR package I created for these situations: https://doctordoni.com/genetic-solutions

Hi. I’m so happy I found this article. I recently got my mouth swabbed for some type of enzyme test, and the results came back saying that my body does not break down folic acid. I’ve always suffered from anxiety and depression and tons of other things that I couldn’t ever find an answer for. I’m constantly low on energy. A recent test showed that I was no longer anemic, but I still feel all the affects of being anemic. Still suffer from extreme depression and anxiety and just overall extreme low energy and no motivation to do anything. I am also a recovering drug addict. For the past year i depended on opiates to cope with my depression. I’m sure that didn’t make my folic deficiency any better. I just want to know what I can do, or what type of over the counter vitamins I can take to help with this. I think the fact that my body doesn’t break down folic acid explains a lot about what’s going on with my body.

Yay, I’m so glad the article was helpful for you. In your situation it is going to be most helpful for you to work with a practitioner who can help to measure your neurotransmitter levels, and nutrient levels, and help you build a plan with high quality products. In my experience it can get overwhelming to do all this on your own. Check out the MTHFR package I created for these situations: https://doctordoni.com/genetic-solutions.

I have had five consecutive miscarriages all ending at 8 weeks. The only thing the dr I am seeing now has found is that I have one gene mutation from MTHFR. The dr I am seeing now put me on folic acid three times a day and that was it. However, I contacted my old Obgyn right when I got a positive pregnancy test and he said I need to be on Lovenox, baby aspirin and progesterone till 36 weeks then switch to Heperin and baby aspirin till 24hrs before delivery. The dr here just want me to get off the Lovenox and baby aspirin as 36 weeks and take nothing else. I so don’t feel comfortable with that. The dr I am seeing now didn’t even tell me that the MTHFR is the cause of my miscarriages but rather told me it was no big deal and that I just need to take folic acid. I Have stopped the folic acid because my body can’t even break it down so it is pointless. I would like your thoughts on this because this is my 6th pregnancy and I am almost 10.5 weeks along so I have made it two plus weeks further than the previous 5 miscarriages so I know the treatment is working. What do you thinking of me stopping folic acid and just keeping Lovenox, baby aspirin and progestogen? Also, your thoughts on me switching at 36 weeks from lovenox to Heparin and baby aspirin till 24hrs before delivery? I know you get a lot of people emailing you but I don’t want a 6th miscarriage so I would like your thoughts since you are the super knowledgable dr. This is your specialty.

Oh I have seen numerous doctors as well and all including even the one I am seeing says miscarriages happen and to keep trying. They wouldn’t have put me on this treatment if my old dr in Dallas didn’t tell me what’s going on with me via phone when I called him. I passed on the info to my current dr and he was like okay yeah that sounds fine and put me on the treatment. My dr in Dallas is a regular OBGYN too and he diagnosed me over the phone in seconds. The Specialists I went to didn’t even help figure out what’s wrong they just kept saying it happens. Sorry but 5 consecutive miscarriages ending at exactly 8 weeks is anything but a fluke. I believe trusting my old dr in Dallas is best because he has gotten me the furthest. I just can’t actually see him as I am in Houston so I update him. This is why I am asking your opinion because he says no folic acid due to my one gene mutation from MTHFR and to stay on my treatment till 36 weeks then switch to subcutaneous heparin till 24hrs before delivery. While my current dr says get off of Lovenox and baby aspirin at 36 weeks and that’s it. I am a high risk for low birth weight and still born so it terrifies me going with nothing at 36 weeks. Your opinion would be greatly appreciated seeing as I have been to so many doctors and they just don’t care to figure things out and just tell me it happens. Thanks again

Hello. This is a very informative article. Do you still recommend the 23andme site for testing? I see that your link is broken. When I went to the site, it seemed to be more about ancestral information. I would like to be tested for MTHFR.

Thank you for the heads up about the link. Yes, 23andme is a good way to get a full genetic panel – I can help you with that through my office to make it easier. 23andme is ancestral, but we can get the genetic data to use for understanding mutations. Perhaps you’d be interested in the package I created to help – find info here: https://doctordoni.com/genetic-solutions. Or send my office an email for further assistance: office@doctordoni.com.

Dear Dr. Doni,
Thank you for your website! I have been recently been diagnosed with compound heterozygous MTHFR with mutations on 677 and 1298. Symptoms include anxiety, insomnia, agitation, hypertension, chronic fatigue, and neuropathy. I also have high mercury levels (blood test and currently awaiting results from 24 hour urine). My physician has recommended Vessel Care to address the methylation issue, but I am concerned with methylcobalamin converting the possible elemental mercury to it is more toxic form, methyl mercury. Just learning about all this as I was just diagnosed recently. I appreciate any help.
Eddie

You’re welcome! I agree with your concern and I’m hoping that perhaps you waited to receive the urine results before starting methylcobalamin. It is important to stabilize your body as much as possible prior to addressing the metal toxicity and the methylation support. Since your blood mercury is high, that means that you have a current source of exposure… have you figured out what that is? Happy to help further if you need let me know.

Being mthfr positive, steps were taken to assure folate levels before egg retrieval. Due to multiple medical complications a gestational surrogate must be used. Five day old embryos will be transferred. Should the geststional surrogate be tested for mthfr since she is actually carrying the baby to term?

I just started taking methyl folate today. I also took a super b complex with my methyl folate mainly because it has niacin in it which I read can stop the negative side effects of methyl folate. I just noticed it also contains folate (not methyl) in the super b complex…. Should I stop taking the super b complex and see how I do on the methyl folate alone?

You may want to start with the methyl folate alone. This way you’ll get a clearer sense of how you feel with that one nutrient. If you react, then best to get a product with niacin alone, like this one:

Then it can be good to add a multivitamin to cover the other nutrients that are important to the methylation cycle. Read more here: http://bit.ly/methylation-cycle.

I am wondering if I have MTHFR mutation? I am born with a type of closed spina bifida. I have most all those severe health issues you discuss, and worsening fatigue depression anxiety and insomnia of late on top of it all, and thyroid, etc. In the last year, every time I even touch a tiny speck of any type of metyhlcobalamin or even plain cobalmin, I’ve tried everything to experiment, I get energy and jitteriness, yes, but the last year I have severe psychiatric symptoms from even a speck, let alone a lozenge! It leads me to feel like I am losing my mind. I know I am severley deficient in 12 and need it. I am at a loss! I also tried liquid B6 and even 1 drop (NOT dropperful) 1 drop, and I had severe depression like unbelievable! So this is causing pyschiatric symptoms of a different sort. I am fearful of any b vitamins again and am severely low in all of them. I don’t eat meat. Please any advice on why these reactions, especially the methylcobalamin would be SO appreciated!

Hi, Dr. Doni:
Thank you for this article.
I’m 28 years old, 2 years ago I suffered from many symptoms like fatigue most of time, depression and forgetting some things in addition to loss of attention and had one miscarriage at 5th week, when I went to physician to know what I suffer from, he told me that I have peripheral vascular difficiency according to my tests which were within limits (serum creatin, serum uric acid, SGPT, SGOT, serum cholesterol, serum HDL cholesterol, serum LDL cholesterol, serum triglycrides, serum ANA, Antibodies concentration ANA).
Then I had another miscarriage at 12 weeks recently I was diagnosed with MTHFR GENE MUTATION HETEROZYGOUS and normal level of homocysteine, my doctor tells me to take baby aspirin and another doctor tell me that my case as heterozygous MTHFR is not a big problem just take blood thinner medications only and tell me to stop reading the scientific articles about my case.
But I still have the symptoms which I previously mentioned so I decide only to take (B complex plus pure encapsulation) methyl folate+ methyl b12 in a low dosage.
Tell me the right steps to follow and which is the correct opinion of my doctors? Is it not a big problem and I have illusion about MTHFR mutation?

My impression of the science is that MTHFR may be playing a role in your case, and there may be other factors as well. It is important that you choose a practitioner who is trained in this area to help you.

About 2 months ago, I found out I had the gene mutations. I have been struggling with a lot of stress and anxiety. My Dr is having me take four Methyl Guard plus spaced through the day. I have my good days and my bad days but sadly just started on meds for my anxiety I was trying so hard to fix it naturally. I am curious if you know if methyl guard would cause weight loss? I have searched online and have yet to find anything. Thank you for your time.

Hello, I was recently told by a family member that we carry the MTHFR mutation and to get tested. I did and just received the results today that I am positive, my Dr called in a folate supplement and I haven’t picked it up yet. I also suffer from IBS and for the last 5 months have had unexplainable digestive issues. All fecal and blood test have come back negative for parasites, h pylori and bacterial infections. I also suffer from extremely low libido and foggy brain. Could this all be related to MTHFR? I am considering a full allergy panel to determine what could be causing my extreme digestive issues.

I have both mutations of MTHFR. I have also been diagnosed with BPD. I am currently taking Sertraline. A saliva test was done to show which pathways and drugs I should take. Now they want me to try Fluoxetine. I want to try Deplin or optimized L methylfolate and fish oil. Do I need to work with a doctor and what type do you recommend? Would a nutritionist have the knowledge to handle all this?

Yes, it would be best to work with a practitioner – MD or ND preferably – to help you with methylation. A nutritionist is not likely to have adequate training unless they specifically specialize in this area. I’d say to look at SeekingHealth.org under “practitioners” to find a trained practitioner. Then you’ll want to work with a psychiatrist who is open to clinical nutrition.

Hi, I have 2 strands of MTHFR… I just had a newborn and on the screening it showed elevated amino acids I am waiting on re-test results. I wonder if my baby has MTHFR and that was making it show up like that in his screening??? Thanks!

Great article! Thank you! I’ve been taking Methyl Guard Plus for 2 years and it’s changed my life! I have a heterozygous MTHFR C77T mutation. Just curious, this vitamin supplement lists folate but then has (folic acid) next to it. If it is indeed folic acid and not folate, is it best to avoid this type of supplement? Thank you!

Hello,
About 6 months ago I had my genetics testing done. It came back with heart disease, high cholesterol, high blood pressure and diabetes type 2. After 6 months of changing all eating habits and with walking 45 minutes a day I went from 164 lbs to 124 lbs. I cut everything out but greens, fish, wheat, and chicken. Only water. No sugars, salt, butter, etc. I just got my second testing back to see if anything had changed. It had but very little. I am now on meds for Diabetes. I am insulin resistant, resistant to the polio vaccine and folic acid. I recently started L-Mythofolate. I plan on making an appointment with my Primary Care Physician. I am sick of the way I have felt for so long. I am 37 with 5 children. I would rather start meds for heart disease, cholesterol, and blood pressure, instead of waiting around any longer to see if I can get my genetics under control by my diet answer physical activities. They already put me on pills for type 2 diabetes. I will continue the L-Mythofolate but just need that peace of mind that the help is already started instead of waiting. My doctor says she is more worried about me having a massive heart attack than anything else at this point. I’m only 37 and I just want to live longer for my children.

If you ask me… 6 months of this is just where my unnecessary stress has come from. It took quit a bit of help to get my heart rate under 140 bpm.

Wait, what is your HgbA1c and cardio CRP? That’s amazing that you lost 40 pounds – congratulations. It seems that you may be saying that you retested your genes – keep in mind that your genes will not change. What changes is the way the genes “express” in terms of how they affect your health. Research shows and I’ve seen in practice over and over that blood sugar levels can decrease with the kinds of diet and exercise changes you are making – so keep going!! Methylfolate is also good, but be sure to have your homocysteine level checked. Best would be to work with a naturopathic doctor if you can because they will support you with your goal of prevention.

Wow. This is very interesting to read. I am 43 and have 3 autoimmune diseases including RA which my Mum and bother had. From early on in life I had anxiety and learnt very quickly to stay away from many things, especially medications since it would affect my mental health. I also used to need to take 4 mega B vitamins every morning to stop me from shaking so bad that it was embarrassing. I also could to tolerate alcohol. Though it sounds like I might be in denial, I am certain I don’t have an actual mental health condition since this is so dependent on what I put into my body. I have been working on correcting my RA for a couple of years now and noticed through elimination diet I have a number of intolerances. I’ve had rhinitis for years also. Since changing the foods I eat and supplementing with probiotics my rhinitis has mostly cleared up along with my anxiety and I no longer shake. I have issues with oestrogen. I have large fibrous lumps in my breasts which go down when I don’t drink soy milk so I figure this is related to oestrogen. I also have uterine fibroids and the symptoms reduce when I don’t drink soy and eat cruciferous vegetables which I have read wash out excess oestrogen. My RA has significantly reduced however I would like it to go away completely since the occasional flares I have are causing some damage to my joints. Although I’ve slowed it down considerably. I am very interested in what you are talking about here since this is new information for me. I live in Sydney, Australia. Could you please advise me if you know anyone in Australia who might be able to help me with this. Would you work with me if there is no-one else local? Do you think this may be related to the genetic mutation you described above or another one? Thanks in advance for any assistance you can provide and thanks for the great article.

You’re welcome Kylie. I’m glad that the information is helpful for you. Yes, I’m happy to meet with you from afar – I help many patients around the world. I’m not sure of anyone near you. Yes, MTHFR can be playing a role, and perhaps other mutations that we can address as well. I’m happy to meet with you – virtually – find more info at DoctorDoni.com/appointment.

Hi Dr Doni – Thank you for this article. I have gone through 2 miscarriages in the past 8 months and, after recent additional testing, was informed I have the Heterozygote (2 different strands?) MTHFR mutation. She explained this type of mutation does not increase my risk or clotting and/or miscarriages, however, she has prescribed additional folic acid (1000 mcg 3x/day) on top of the 800 mcg in my prenatal vitamin (Rainbow). I have a follow up appt scheduled with a fertility specialist, but after reading up on this further, I’m concerned about the affects of this. I expressed my concerns to my current doctor and she still recommends I stay with this folic acid plan. Should I seek a second opinion? Thanks so much!

Yes, I would suggest seeking a second opinion, but know that many practitioners are not trained on how to address MTHFR, so you’ll want to work with a practitioner, alongside your OBGYN, who specializes in miscarriage and MTHFR. You may be interested in this other article I wrote specifically about MTHFR and pregnancy https://doctordoni.com/2015/04/pregnancy-miscarriages-and-mthfr.html. I’m happy to meet with you – virtually if needed – find more info at DoctorDoni.com/appointment.

I am homozygous for A1298C . I would like to know whether a baby born to me will surely inherit the gene mutation or is there any possibility that the baby will be normal and without an MTHFR gene mutation (considering my partner doesn’t have the faulty genes).

Dr. Doni, thank you so much for such a simple explanation of MTHFR. I have sat in on a few talks about it, but this is by far the simplest breakdown I have seen. I recently became a distributor for a company that provides customized nutrition in the form of supplements and adds FOLATE to quite a few of their products. I will definitely point my partners and future customers to this post as to why its such a big deal. Thank you!

Hi Dr Doni,
Since I’m planning to get pregnant I started to take 5-MTHF instead folic acid. Since I don’t have any mutations – is this suitable for me? I know that 5-MTHF is especially for women with mutations but what do you think is better for person without mutations to take – folic acid or 5-MTHF?

I feel that it is good for all women to take 5MTHF – because it is the more active and usable form of the nutrient – which means it is less work for your body and more benefit for you and your baby. It would be a good idea to have your homocysteine levels checked at least once per year to make sure your dose is working well for your body.

Dr. Doni,
My niece (age 23) was recently diagnosed with a genetic condition that turns folic acid/folate into a toxin in her body. She originally thought she may have a lactose, then a gluten intolerance, and is currently ‘detoxing’ from all 3 per her physician’s instructions. I understand her situation is just the opposite of what most are describing above, but wondered if you are familiar with this type of intolerance, and if so, can you guide us to resources to help guide us in the best options to deal with this condition?
Thank you!
Steph C.

I would want to find out exactly what her blood work is showing. Some practitioners may describe MTHFR mutation as “turning folic acid into a toxin” so she may in fact have what I’m describing in this article. If you could find out exactly what they found, then we can address it. If that is the case, then you just need to avoid folic acid and help her to get healthy, active folate, from raw greens and from supplements.

I have Lyme Disease and MTHFR mutation. My integrative medicine doctor is not starting me on Methylfolate yet because she says I am not ready. My B6 and B12 are elevated. My homocysteine level is also elevated. We were working on my neurotransmitters with Neuroscience supplements until my Bs went up. When would it be safe to start methylfolate? And what can I do to decrease my Bs and homocysteine levels?

Hi Ian,
As I told Starr, naturopathic care is very individualized, so please prioritize your own doctor’s advice over my general recommendations here. If you want to set up some one-on-one time, I’m happy to meet—even if it’s by phone. Keep in mind that “folate” on a standard blood test also includes folic acid, so it does not just reflect folate status, and actually when I see an elevated folate, it indicates to me that you likely have an MTHFR mutation and that your body is not properly utilizing folate (thus it is stuck in your blood). Methyl B12 and folate may be good for you… but I’d want to know your SNPs, homocysteine level, RBC magnesium, and a few other things first.

Hi Starr,
Naturopathic care is so individualized, I want to be careful about the advice I give you. I can give you general recommendations, but you should always prioritize your own doctor’s advice over general recommendations. If you want to set up some one-on-one time, I’m always happy to meet—even if it’s by phone. B6 and B12 (methyl) often show elevated when you are taking them – that is usually not a problem and is likely a good thing. Homocysteine will decrease once you start methylB12 and folate. It is good to only start methylfolate when your body is ready… and it sounds to me that there may be other issues or nutrients that need to be addressed first.

Hi Dr Doni, I just found out I have two copies of MTHFR A1298C and one copy of Factor V Leiden. I know I need to be taking folate but should I stop my multi vitamin that has folic acid in it, and why? Thanks very much, Kim

Yes, I generally suggest stopping all supplements that contain folic acid – it is not necessary and can actually make things worse. You need to only have methylfolate – and in many cases we need to address other nutrients before even adding methylfolate to make sure your body can get the most benefit out of it. Work with a naturopathic doctor or practitioner with training in how to address MTHFR.

I just read The Anxiety Summit – How Methylfolate can make you Feel Worse and even Cause Anxiety, and What to do about it. I have been on Pristiq and Xanax Xr for many years. My husband was diagnosed with Pancreatic Cancer over two years and though he is Thank God doing fine, I have been feeling depressed. So I found a new psychiatrist as we had to move to another state through all of my husband’s treatments and she recommended Deplin 15. Since taking it I have felt so many horrible side effects. Tingling in my arms and legs. Joint pains. Nausea. So after one week I stopped it. It is now almost 3 weeks since I stopped it and I still have these side effects.
While I am upset and nervous about it, your article at least made me feel I wasn’t hallucinating these feelings and feel it was definitely too coincidental to be anything other than the Deplin. But nowhere in your article does it say WHAT TO DO ABOUT IT. Maybe I missed it but how do I get rid of these side effects? I’m drinking lots of water to get it out of my system but wonder how long it takes. I have so much on my plate between my husband and mom I can’t afford to feel this way every day. How do I get this methylfolate out of my system? It’s scaring me. Any advice would be so appreciated. I hope I haven’t caused damage to my body by taking this Deplin 15. I feel paranoid that it was a big mistake and it will never go away. Please help.
–Fran Finkelstein

Hi Fran,
With all you have going on, I’d recommend working with a practitioner who can help guide you on the specific details of how to address methylation – someone who can help you to determine whether you need methylfolate and how best to help your body benefit from it. Each individual case is very specific, as you might imagine – so I hesitate to give you specific advice without knowing more about your case. There are definitely ways that I help patients in my practice who have the experience you have had. If you don’t currently have a practitioner, I’m happy to help further if you’d like to arrange a consultation (can be by phone). Connect with me directly on the make an appointment page.
Best wishes,
Dr. Doni